Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Mohammed AlMuhaizea; Rawan AlMass; Aljouhra AlHargan; Anoud AlBader; Eva Medico Salsench; Jude Howaidi; Jacie Ihinger; Peter Karachunski; Amber Begtrup; Monica Segura Castell; Peter Bauer; Aida Bertoli-Avella; Ibrahim H Kaya; Jumanah AlSufayan; Laila AlQuait; Aziza Chedrawi; Stefan T Arold; Dilek Colak; Tahsin Stefan Barakat; Namik Kaya

doi:10.1007/s00401-020-02128-8

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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Journal article

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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Mohammed AlMuhaizea, Rawan AlMass, Aljouhra AlHargan, Anoud AlBader, Eva Medico Salsench, Jude Howaidi, Jacie Ihinger, Peter Karachunski, Amber Begtrup, Monica Segura Castell, …

Acta neuropathologica, Vol.139(4), pp.791-794

01/04/2020

DOI: https://doi.org/10.1007/s00401-020-02128-8

PMID: 32006098

Abstract

Brain Diseases - genetics

Brain Diseases - pathology

Child

Child, Preschool

Epilepsy - genetics

Epilepsy - pathology

Female

Humans

Male

Microcephaly - genetics

Microcephaly - pathology

Movement Disorders - genetics

Movement Disorders - pathology

Mutation

Pedigree

Vesicular Transport Proteins - genetics

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Title: Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy
Creators - without role: Mohammed AlMuhaizea - Alfaisal University
Rawan AlMass - King Faisal Specialist Hospital & Research Centre
Aljouhra AlHargan - King Faisal Specialist Hospital & Research Centre
Anoud AlBader - King Fahd Security College
Eva Medico Salsench - Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Jude Howaidi - King Fahd Security College
Jacie Ihinger - University of Minnesota Medical Center
Peter Karachunski - University of Minnesota
Amber Begtrup - GeneDx, Gaithersburg, USA
Monica Segura Castell - Centogene
Peter Bauer - Centogene
Aida Bertoli-Avella - Centogene
Ibrahim H Kaya - Alfaisal University
Jumanah AlSufayan - Department of Genetics, KFSHRC, Riyadh, Saudi Arabia
Laila AlQuait - King Faisal Specialist Hospital & Research Centre
Aziza Chedrawi - King Faisal Specialist Hospital & Research Centre
Stefan T Arold - King Abdullah University of Science and Technology
Dilek Colak - King Faisal Specialist Hospital & Research Centre
Tahsin Stefan Barakat - Erasmus MC
Namik Kaya - King Fahd Security College
Publication Details: Acta neuropathologica, Vol.139(4), pp.791-794
Identifiers: 9913425408331
Academic Unit: Alfaisal University; King Abdullah University of Science & Technology; King Faisal University
Language: English
Resource Type: Journal article